Medicines for Thalassaemia

What it is

Thalassaemia is a group of inherited blood conditions in which the body makes less, or abnormal, haemoglobin — the protein in red blood cells that carries oxygen. This leads to anaemia, ranging from very mild to severe, depending on the type. People who carry a single thalassaemia gene (thalassaemia trait) are usually healthy but can pass it on, and may have a mild anaemia sometimes mistaken for iron deficiency. More severe forms, where more genes are affected, cause significant anaemia from early childhood, with tiredness, poor growth and other complications, and need lifelong treatment. It is more common in people with family origins in the Mediterranean, Middle East, South Asia and Southeast Asia. It is diagnosed with blood tests, and screening is offered in pregnancy.

How it is treated

Care depends on the type and severity. People with thalassaemia trait usually need no treatment beyond being aware they are carriers, which matters for family planning (as two carriers can have a severely affected child), and avoiding unnecessary iron treatment. Severe thalassaemia is managed by a specialist haematology team and may involve regular blood transfusions to treat the anaemia, together with treatment to remove the excess iron that transfusions cause (iron chelation), and monitoring and management of complications. A stem cell (bone marrow) transplant can cure some people, and newer treatments are emerging. Genetic counselling and carrier screening support families.